Clinical and biological landscape of constitutional mismatchrepair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study
(2024) The Lancet (French Edition) — p. 1-15 (2024)
Files
Clinicalandbiologicallandscape.pdf
Open Access - Adobe PDF
- 41.97 KB
Details
- Authors
- et. al.
- Abstract
- Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare and aggressive cancer predisposition syndrome. Because a scarcity of data on this condition contributes to management challenges and poor outcomes, we aimed to describe the clinical spectrum, cancer biology, and impact of genetics on patient survival in CMMRD.
- Affiliations
Citations
Ayse Bahar Ercan, Melyssa Aronson, Nicholas R Fernandez, Yuan Chang, Adrian Levine, Zhihui Amy Liu, Logine Negm, Melissa Edwards, Vanessa Bianchi, Lucie Stengs, Jiil Chung, Abeer Al-Battashi, Agnes Reschke, Alex Lion, Alia Ahmad, Alvaro Lassaletta, Alyssa T Reddy, Amir F Al-Darraji, Amish C Shah, et al. (2024). Clinical and biological landscape of constitutional mismatchrepair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study. The Lancet (French Edition), 1-15. https://doi.org/10.1016 (Original work published 2024)